Familial Afibrinogenemia

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.

Epidemiology

Prevalence of afibrinogenemia is estimated at 1/1,000,000.

Clinical description

Common manifestations of afibrinogenemia include umbilical cord bleeding, epistaxis, hemarthrosis, gastrointestinal bleeding, menorrhagia, traumatic and surgical bleeding and, rarely, intracranial hemorrhage. Recurrent spontaneous abortions may occur.

Etiology

The deficiency is due to various mutations in the FGA, FGB, or FGG genes.

Genetic counseling

Transmission is autosomal recessive.